Genetic mapping demonstrates that the α-subunit of retinal cGMP-phosphodiesterase is not the site of the rd mutation
pmid: 2167232
Genetic mapping demonstrates that the α-subunit of retinal cGMP-phosphodiesterase is not the site of the rd mutation
In the inherited degenerative retinal disease of the rd mouse, rod cGMP levels rise above normal due to depressed cGMP-phosphodiesterase (cGMP-PDE) function a few days before degeneration begins. The subnormal activity of the cGMP-PDE may be due to a lesion in the enzyme itself, or in any of several proteins that regulate it. We have used a bovine cDNA for the alpha-subunit of cGMP-PDE to map its gene Pdea to mouse chromosome 18 at a distance of 21 centimorgans (cM) from the Mbp locus. Since the locus of the rd mutation is on mouse chromosome 5, a defect in the Pdea gene is ruled out as the cause of this inherited retinal degeneration.
- University of Chicago United States
- Loyola Marymount University United States
- National Institutes of Health United States
- Jules Stein Eye Institute United States
- National Institute of Allergy and Infectious Diseases United States
Mice, 3',5'-Cyclic-GMP Phosphodiesterases, Mutation, Retinal Degeneration, Animals, Chromosome Mapping, Mice, Mutant Strains, Retina
Mice, 3',5'-Cyclic-GMP Phosphodiesterases, Mutation, Retinal Degeneration, Animals, Chromosome Mapping, Mice, Mutant Strains, Retina
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